SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Hypospadias, perineal ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553329427
rs1553329427 		0.851 0.200 2 31580683 frameshift variant A/- del
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121434250
rs121434250 		0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780523225
rs780523225 		0.882 0.120 2 31529409 missense variant A/G;T snv 8.0E-06 7.0E-06
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9332967
rs9332967 		0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019